WS1
MCID: WRD030
MIFTS: 54

Waardenburg Syndrome, Type 1 (WS1)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Waardenburg Syndrome, Type 1

MalaCards integrated aliases for Waardenburg Syndrome, Type 1:

Name: Waardenburg Syndrome, Type 1 57 13
Waardenburg Syndrome Type 1 12 73 20 58 29 6 15 70
Ws1 57 12 20 58 72
Waardenburg Syndrome Type I 12 25 58
Waardenburg Syndrome with Dystopia Canthorum 57
Waardenburg's Syndrome Type 1 20
Syndrome, Waardenburg, Type 1 39
Waardenburg Syndrome, Type I 54
Waardenburg Syndrome 1 72
Waardenburg Syndrome 44

Characteristics:

Orphanet epidemiological data:

58
waardenburg syndrome type 1
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability seen in waardenburg syndrome type 1
other variants of waardenburg syndrome include waardenburg syndrome type 2 , waardenburg syndrome type 3 , and waardenburg syndrome type 4


HPO:

31
waardenburg syndrome, type 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Ws1 showed penetrance of at least 85% [preus et al 1983] before the advent of molecular testing. careful examination of individuals identified on the basis of pedigree analysis as having a pax3 pathogenic variant usually reveals subtle findings (minor criteria). hence, those individuals with an affected first-degree relative should be examined closely as the penetrance is likely almost complete.

Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Waardenburg Syndrome, Type 1

UniProtKB/Swiss-Prot : 72 Waardenburg syndrome 1: WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.

MalaCards based summary : Waardenburg Syndrome, Type 1, also known as waardenburg syndrome type 1, is related to waardenburg syndrome type 4 and peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease. An important gene associated with Waardenburg Syndrome, Type 1 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Neural Crest Differentiation and Melanocyte Development and Pigmentation. Affiliated tissues include eye, skin and heart, and related phenotypes are mandibular prognathia and short nose

Disease Ontology : 12 A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has material basis in heterozygous mutation in the PAX3 gene on chromosome 2q36.

GARD : 20 Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss, and patchy pigment disturbances of the iris, hair and skin. Mutations in the PAX3 gene cause the symptoms observed in this condition. Treatment is symptomatic and supportive. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.

OMIM® : 57 Waardenburg syndrome type 1 (WS1) is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). (193500) (Updated 20-May-2021)

Wikipedia : 73 Waardenburg Syndrome Type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that... more...

GeneReviews: NBK1531

Related Diseases for Waardenburg Syndrome, Type 1

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 208)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome type 4 32.3 SOX10 MITF EDNRB EDN3
2 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 32.3 SOX10 PAX3 MITF EDNRB EDN3
3 albinism, ocular, with late-onset sensorineural deafness 32.1 TYR PAX3 MITF
4 waardenburg syndrome, type 2b 31.6 SOX10 MITF EDN3
5 waardenburg syndrome, type 4a 31.4 TYR SOX10 SNAI2 PAX3 MITF EDNRB
6 waardenburg syndrome, type 2c 31.3 SOX10 MITF EDNRB EDN3
7 ocular albinism with congenital sensorineural deafness 31.3 TYR PAX3 MITF
8 waardenburg syndrome, type 2d 31.2 SOX10 SNAI2 PAX3 MITF EDNRB
9 waardenburg syndrome, type 4c 31.1 SOX10 PAX3 MITF EDNRB EDN3
10 megacolon 30.5 SOX10 PAX3 EDNRB EDN3
11 tietz albinism-deafness syndrome 30.3 TYR SOX10 SNAI2 PAX3 MITF EDNRB
12 waardenburg syndrome, type 4b 30.1 TYR SOX10 SNAI2 PAX3 MITF EDNRB
13 waardenburg syndrome, type 2e 30.1 TYR SOX10 SNAI2 PAX3 MITF EDNRB
14 melanoma, cutaneous malignant 8 30.0 TYR MITF
15 crest syndrome 30.0 SOX10 EDNRB
16 intestinal pseudo-obstruction 29.8 SOX10 EDNRB EDN3
17 dowling-degos disease 1 29.8 TYR MITF
18 waardenburg syndrome, type 3 29.8 TYR SOX10 SNAI2 PAX3 MITF EDNRB
19 mutism 29.7 MITF GJB2
20 wolfram syndrome 1 29.7 WFS1 CISD2
21 hirschsprung disease 1 29.7 SOX10 SNAI2 PAX3 MITF EDNRB EDN3
22 sensorineural hearing loss 29.6 WFS1 SOX10 PAX3 MITF GJB2 EDN3
23 microphthalmia 29.4 TYR SOX10 PAX3 MITF
24 pigmentation disease 29.4 TYR MITF
25 waardenburg syndrome, type 2a 29.4 TYR SOX10 PAX3 MITF EDNRB
26 rare genetic deafness 29.2 WFS1 SOX10 PAX3 MITF GJB2 EDNRB
27 piebald trait 28.8 TYR SOX10 SNAI2 PAX3 MITF EDNRB
28 waardenburg's syndrome 28.1 WFS1 TYR SOX10 SNAI2 PAX3 MITF
29 microphthalmia with limb anomalies 11.0
30 ocular albinism 11.0
31 anophthalmos with limb anomalies 11.0
32 albinism, oculocutaneous, type ib 11.0
33 branchiootic syndrome 1 10.5
34 demyelinating polyneuropathy 10.3
35 neural tube defects 10.3
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
37 gallbladder melanoma 10.3 SOX10 MITF
38 leukodystrophy 10.3
39 malignant choroid melanoma 10.3 SOX10 MITF
40 catatrichy 10.2
41 fryns microphthalmia syndrome 10.2
42 ptosis 10.2
43 myelomeningocele 10.2
44 neuropathy 10.2
45 hypogonadotropic hypogonadism 10.2
46 hypogonadism 10.2
47 intestinal obstruction 10.2
48 hypotonia 10.2
49 albinism 10.2
50 cleft lip/palate 10.2

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 1:



Diseases related to Waardenburg Syndrome, Type 1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 1

Human phenotypes related to Waardenburg Syndrome, Type 1:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
4 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 lacrimation abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000632
6 heterochromia iridis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001100
7 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
8 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
9 white forelock 58 31 hallmark (90%) Very frequent (99-80%) HP:0002211
10 white hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0011364
11 white eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002226
12 white eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0002227
13 congenital sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008527
14 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
15 premature graying of hair 58 31 frequent (33%) Frequent (79-30%) HP:0002216
16 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
17 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
18 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
19 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
20 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
21 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
22 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
23 sprengel anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000912
24 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
25 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
26 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
27 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
28 myelomeningocele 31 occasional (7.5%) HP:0002475
29 spina bifida 58 31 Occasional (29-5%) HP:0002414
30 hearing impairment 58 Very frequent (99-80%)
31 hypertelorism 31 HP:0000316
32 smooth philtrum 31 HP:0000319
33 malformation of the heart and great vessels 58 Occasional (29-5%)
34 blue irides 31 HP:0000635
35 hypopigmentation of hair 58 Very frequent (99-80%)
36 abnormality of the eye 58 Very frequent (99-80%)
37 blepharophimosis 31 HP:0000581
38 abnormality of the hair 58 Frequent (79-30%)
39 supernumerary ribs 31 HP:0005815
40 hypopigmentation of the fundus 31 HP:0007894
41 oral cleft 31 HP:0000202
42 partial albinism 31 HP:0007443
43 hypoplastic iris stroma 31 HP:0007990
44 aplasia of the vagina 31 HP:0003250
45 supernumerary vertebrae 31 HP:0002946

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism
blepharophimosis
synophrys
laterally displaced inner canthi (dystopia canthorum) (95 to 99%)
increased intercanthal distance
more
Head And Neck Face:
smooth philtrum
decreased philtrum length

Skin Nails Hair Hair:
premature graying of hair
white forelock
bushy eyebrows
white eyelashes and eyebrows

Head And Neck Mouth:
cleft lip/palate
mandibular prognathism

Head And Neck Ears:
congenital sensorineural deafness

Genitourinary Internal Genitalia Female:
absent uterine adnexa (rare)

Neurologic Central Nervous System:
spina bifida (less common)
myelomeningocele (less common)

Head And Neck Nose:
wide nasal bridge
hypoplastic alae nasi
broad, high nasal root
decreased nasal bone length

Skeletal Spine:
sprengel anomaly
supernumerary vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
supernumerary ribs

Skin Nails Hair Skin:
congenital partial albinism (leukoderma) on face, trunk, or limbs
hypopigmented skin lesions

Genitourinary External Genitalia Female:
absent vagina (rare)

Skeletal Skull:
aplasia of posterior semicircular canal on ct scan

Clinical features from OMIM®:

193500 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 1:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 CISD2 EDN3 EDNRB MITF PAX3 SNAI2
2 homeostasis/metabolism MP:0005376 10.1 CISD2 CMBL EDNRB GJB2 MITF PAX3
3 embryo MP:0005380 10.08 EDN3 EDNRB GJB2 MITF PAX3 SNAI2
4 integument MP:0010771 10.07 CISD2 EDN3 EDNRB GJB2 MITF PAX3
5 endocrine/exocrine gland MP:0005379 10.06 CISD2 EDNRB MITF PAX3 SNAI2 SOX10
6 craniofacial MP:0005382 10.05 CISD2 EDNRB GJB2 MITF PAX3 SNAI2
7 digestive/alimentary MP:0005381 10.04 CISD2 EDN3 EDNRB PAX3 SNAI2 SOX10
8 mortality/aging MP:0010768 9.96 CISD2 EDN3 EDNRB GJB2 MITF PAX3
9 hearing/vestibular/ear MP:0005377 9.91 CISD2 EDNRB GJB2 MITF PAX3 TYR
10 nervous system MP:0003631 9.81 CISD2 EDN3 EDNRB GJB2 MITF PAX3
11 limbs/digits/tail MP:0005371 9.8 EDNRB GJB2 MITF PAX3 SOX10 TYR
12 pigmentation MP:0001186 9.56 CISD2 EDN3 EDNRB MITF PAX3 SNAI2
13 vision/eye MP:0005391 9.17 CISD2 EDNRB GJB2 MITF PAX3 SNAI2

Drugs & Therapeutics for Waardenburg Syndrome, Type 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development and Clinical Application of Two New Genetic Deafness Gene Unknown status NCT02418936

Search NIH Clinical Center for Waardenburg Syndrome, Type 1

Cochrane evidence based reviews: waardenburg syndrome

Genetic Tests for Waardenburg Syndrome, Type 1

Genetic tests related to Waardenburg Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 1 29 PAX3

Anatomical Context for Waardenburg Syndrome, Type 1

MalaCards organs/tissues related to Waardenburg Syndrome, Type 1:

40
Eye, Skin, Heart, Kidney, Bone, Adrenal Gland, Tongue

Publications for Waardenburg Syndrome, Type 1

Articles related to Waardenburg Syndrome, Type 1:

(show top 50) (show all 146)
# Title Authors PMID Year
1
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). 6 25 57
8447316 1993
2
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. 6 25 57
1347149 1992
3
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. 57 6 25
1347148 1992
4
Waardenburg syndrome and myelomeningocele in a family. 57 6 61
8423616 1993
5
Homozygosity for Waardenburg syndrome. 57 6
7726174 1995
6
Waardenburg syndrome associated with meningomyelocele. 6 57
1308353 1992
7
Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review. 6 57
1887852 1991
8
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. 6 25
21965087 2012
9
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. 6 25
20478267 2010
10
Review and update of mutations causing Waardenburg syndrome. 57 25
20127975 2010
11
Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability. 57 25
18241065 2008
12
Waardenburg syndrome: clinical differentiation between types I and II. 57 25
12599185 2003
13
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. 25 57
10942418 2000
14
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. 25 57
9654197 1998
15
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. 25 57
1349198 1992
16
Germ-line mosaicism in Waardenburg syndrome. 25 57
2036740 1991
17
Waardenburg syndrome--penetrance of major signs. 25 57
6881207 1983
18
Older paternal age and fresh gene mutation: data on additional disorders. 57 25
1110452 1975
19
A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. 25 57
14902764 1951
20
The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1). 61 57
9192262 1997
21
Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome. 61 57
8571965 1996
22
Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. 57 54
8533800 1995
23
Analysis of variability of clinical manifestations in Waardenburg syndrome. 61 6
7573125 1995
24
Molecular basis of splotch and Waardenburg Pax-3 mutations. 57 61
7909605 1994
25
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. 6 61
8490648 1993
26
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. 61 6
1303193 1992
27
Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q. 57 54
1670751 1991
28
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. 54 57
2339698 1990
29
Waardenburg syndrome: Novel mutations in a large Brazilian sample. 6
29407415 2018
30
Hearing loss in Waardenburg syndrome: a systematic review. 57
26100139 2016
31
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. 61 25
20664692 2010
32
Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. 61 25
14603070 2003
33
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. 25 54
12949970 2003
34
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. 57
9500554 1998
35
Waardenburg syndrome. 57
9279758 1997
36
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. 61 25
8664898 1996
37
The mutational spectrum in Waardenburg syndrome. 6
8589691 1995
38
Possible homozygous Waardenburg syndrome in a fetus with exencephaly. 57
8588597 1995
39
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. 6
7897628 1995
40
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. 57
7981674 1994
41
Craniofacial anthropometric studies in Waardenburg syndrome type I. 57
8403450 1993
42
Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3. 57
8322830 1993
43
Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy. 57
1442895 1992
44
Waardenburg syndrome type I in a child with deletion (2) (q35q36.2) 57
1481835 1992
45
Traces of her workings. 57
1303249 1992
46
Phenotypic discriminants in the Waardenburg syndrome. 57
1576755 1992
47
Mouse and hamster mutants as models for Waardenburg syndromes in humans. 57
2246770 1990
48
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). 57
2596512 1989
49
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). 6
2785681 1989
50
Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi. 57
2609099 1989

Variations for Waardenburg Syndrome, Type 1

ClinVar genetic disease variations for Waardenburg Syndrome, Type 1:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX3 NM_181458.4(PAX3):c.185_202del (p.Met62_Ile67del) Deletion Pathogenic 4205 rs1559320436 GRCh37: 2:223161816-223161833
GRCh38: 2:222297097-222297114
2 PAX3 NM_181458.4(PAX3):c.149C>T (p.Pro50Leu) SNV Pathogenic 4206 rs104893650 GRCh37: 2:223161869-223161869
GRCh38: 2:222297150-222297150
3 PAX3 NM_181458.4(PAX3):c.268_281del (p.Tyr90fs) Deletion Pathogenic 4207 rs1559320252 GRCh37: 2:223161737-223161750
GRCh38: 2:222297018-222297031
4 PAX3 PAX3, 1-BP DEL Deletion Pathogenic 4208 GRCh37:
GRCh38:
5 PAX3 NM_181458.4(PAX3):c.556_557CA[1] (p.His186fs) Microsatellite Pathogenic 4209 rs1559316535 GRCh37: 2:223158913-223158914
GRCh38: 2:222294194-222294195
6 PAX3 NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) SNV Pathogenic 4210 rs587776586 GRCh37: 2:223161776-223161776
GRCh38: 2:222297057-222297057
7 PAX3 NM_181458.4(PAX3):c.365_369del (p.Lys122fs) Deletion Pathogenic 4211 rs1559318562 GRCh37: 2:223160329-223160333
GRCh38: 2:222295610-222295614
8 PAX3 NM_181458.4(PAX3):c.238C>G (p.His80Asp) SNV Pathogenic 30595 rs387906947 GRCh37: 2:223161780-223161780
GRCh38: 2:222297061-222297061
9 PAX3 NM_181458.4(PAX3):c.556del (p.His186fs) Deletion Pathogenic 30596 rs1559316542 GRCh37: 2:223158916-223158916
GRCh38: 2:222294197-222294197
10 PAX3 NM_181458.4(PAX3):c.415A>T (p.Lys139Ter) SNV Pathogenic 235094 rs876661317 GRCh37: 2:223160283-223160283
GRCh38: 2:222295564-222295564
11 PAX3 NM_181458.4(PAX3):c.218C>T (p.Ser73Leu) SNV Pathogenic 547733 rs1553593928 GRCh37: 2:223161800-223161800
GRCh38: 2:222297081-222297081
12 PAX3 NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter) SNV Pathogenic 545017 rs147111779 GRCh37: 2:223066853-223066853
GRCh38: 2:222202134-222202134
13 PAX3 NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs) Deletion Pathogenic 800731 rs1574646155 GRCh37: 2:223084955-223084956
GRCh38: 2:222220236-222220237
14 PAX3 NM_181458.4(PAX3):c.879dup (p.Phe294fs) Duplication Pathogenic 505425 rs1553572967 GRCh37: 2:223086019-223086020
GRCh38: 2:222221300-222221301
15 PAX3 NM_181458.4(PAX3):c.241G>C (p.Gly81Arg) SNV Pathogenic 995911 GRCh37: 2:223161777-223161777
GRCh38: 2:222297058-222297058
16 PAX3 NM_181458.4(PAX3):c.264del (p.Leu87_Cys88insTer) Deletion Pathogenic 995912 GRCh37: 2:223161754-223161754
GRCh38: 2:222297035-222297035
17 PAX3 NM_181458.4(PAX3):c.671C>T (p.Thr224Ile) SNV Pathogenic 995913 GRCh37: 2:223096918-223096918
GRCh38: 2:222232199-222232199
18 PAX3 NM_181458.4(PAX3):c.706C>A (p.Arg236Ser) SNV Pathogenic 995914 GRCh37: 2:223096883-223096883
GRCh38: 2:222232164-222232164
19 PAX3 NM_181458.4(PAX3):c.925dup (p.Glu309fs) Duplication Pathogenic 995916 GRCh37: 2:223085973-223085974
GRCh38: 2:222221254-222221255
20 PAX3 and overlap with 1 gene(s) GRCh37/hg19 2q36.1(chr2:222199886-222298997) copy number loss Pathogenic 995917 GRCh37: 2:222199886-222298997
GRCh38:
21 PAX3 NM_181458.4(PAX3):c.143del (p.Gly48fs) Deletion Pathogenic 995921 GRCh37: 2:223161875-223161875
GRCh38: 2:222297156-222297156
22 PAX3 NM_181458.4(PAX3):c.*175C>T SNV Pathogenic 1048552 GRCh37: 2:223065952-223065952
GRCh38: 2:222201233-222201233
23 PAX3 NM_181458.4(PAX3):c.123del (p.Gly42fs) Deletion Pathogenic 1048553 GRCh37: 2:223161895-223161895
GRCh38: 2:222297176-222297176
24 PAX3 NM_181458.4(PAX3):c.127G>T (p.Gly43Cys) SNV Pathogenic 827652 rs1574772091 GRCh37: 2:223161891-223161891
GRCh38: 2:222297172-222297172
25 PAX3 NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) SNV Pathogenic 503680 rs772241382 GRCh37: 2:223096922-223096922
GRCh38: 2:222232203-222232203
26 PAX3 NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) SNV Pathogenic 4212 rs104893651 GRCh37: 2:223161767-223161767
GRCh38: 2:222297048-222297048
27 PAX3 NM_181458.4(PAX3):c.366_367del (p.Asn125fs) Deletion Pathogenic 1064868 GRCh37: 2:223160331-223160332
GRCh38: 2:222295612-222295613
28 PAX3 NM_181458.4(PAX3):c.812G>A (p.Arg271His) SNV Pathogenic 279964 rs774528745 GRCh37: 2:223086087-223086087
GRCh38: 2:222221368-222221368
29 PAX3 NM_181458.4(PAX3):c.811C>T (p.Arg271Cys) SNV Pathogenic 547748 rs1380858784 GRCh37: 2:223086088-223086088
GRCh38: 2:222221369-222221369
30 PAX3 NM_181458.4(PAX3):c.808C>T (p.Arg270Cys) SNV Pathogenic 547747 rs1228590199 GRCh37: 2:223086091-223086091
GRCh38: 2:222221372-222221372
31 PAX3 NM_181458.4(PAX3):c.784C>T (p.Arg262Ter) SNV Pathogenic 280007 rs886041319 GRCh37: 2:223096805-223096805
GRCh38: 2:222232086-222232086
32 PAX3 NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) SNV Pathogenic 4217 rs267606931 GRCh37: 2:223161851-223161851
GRCh38: 2:222297132-222297132
33 PAX3 NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) SNV Pathogenic/Likely pathogenic 547732 rs1356246522 GRCh37: 2:223161808-223161808
GRCh38: 2:222297089-222297089
34 PAX3 NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) SNV Pathogenic/Likely pathogenic 488038 rs1419548558 GRCh37: 2:223161876-223161876
GRCh38: 2:222297157-222297157
35 PAX3 NM_181458.4(PAX3):c.464del (p.Ser155fs) Deletion Likely pathogenic 488037 rs1553592766 GRCh37: 2:223159008-223159008
GRCh38: 2:222294289-222294289
36 PAX3 NM_181458.4(PAX3):c.790C>T (p.Gln264Ter) SNV Likely pathogenic 488036 rs1553575159 GRCh37: 2:223096799-223096799
GRCh38: 2:222232080-222232080
37 PAX3 NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del) Deletion Likely pathogenic 488035 rs1553593965 GRCh37: 2:223161858-223161869
GRCh38: 2:222297139-222297150
38 PAX3 NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) SNV Likely pathogenic 488034 rs773327091 GRCh37: 2:223161894-223161894
GRCh38: 2:222297175-222297175
39 PAX3 NM_181458.4(PAX3):c.727_739del (p.Tyr243fs) Deletion Likely pathogenic 488033 rs1553575179 GRCh37: 2:223096850-223096862
GRCh38: 2:222232131-222232143
40 PAX3 NM_181458.4(PAX3):c.142G>T (p.Gly48Cys) SNV Likely pathogenic 488032 rs1419548558 GRCh37: 2:223161876-223161876
GRCh38: 2:222297157-222297157
41 PAX3 NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys) SNV Likely pathogenic 547738 rs1553593874 GRCh37: 2:223161749-223161749
GRCh38: 2:222297030-222297030
42 PAX3 NM_181458.4(PAX3):c.246C>A (p.Cys82Ter) SNV Likely pathogenic 547737 rs777297575 GRCh37: 2:223161772-223161772
GRCh38: 2:222297053-222297053
43 PAX3 NM_181458.4(PAX3):c.232G>T (p.Val78Leu) SNV Likely pathogenic 547735 rs1553593917 GRCh37: 2:223161786-223161786
GRCh38: 2:222297067-222297067
44 PAX3 NM_181458.4(PAX3):c.692T>C (p.Leu231Pro) SNV Likely pathogenic 547744 rs1553575191 GRCh37: 2:223096897-223096897
GRCh38: 2:222232178-222232178
45 PAX3 NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) Insertion Likely pathogenic 547743 rs1553592703 GRCh37: 2:223158941-223158942
GRCh38: 2:222294222-222294223
46 PAX3 NM_181458.4(PAX3):c.524dup (p.Glu176fs) Duplication Likely pathogenic 547742 rs1553592713 GRCh37: 2:223158947-223158948
GRCh38: 2:222294228-222294229
47 PAX3 NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs) Indel Likely pathogenic 547741 rs1553592757 GRCh37: 2:223158988-223158990
GRCh38: 2:222294269-222294271
48 PAX3 NM_181458.4(PAX3):c.452-9C>A SNV Likely pathogenic 547740 rs1379006499 GRCh37: 2:223159029-223159029
GRCh38: 2:222294310-222294310
49 PAX3 NM_181458.4(PAX3):c.791A>C (p.Gln264Pro) SNV Likely pathogenic 547746 rs1553575157 GRCh37: 2:223096798-223096798
GRCh38: 2:222232079-222232079
50 MITF NM_001354604.2(MITF):c.1031+1G>A SNV Likely pathogenic 545015 rs1559749017 GRCh37: 3:70005682-70005682
GRCh38: 3:69956531-69956531

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 1:

72 (show all 23)
# Symbol AA change Variation ID SNP ID
1 PAX3 p.Phe45Leu VAR_003790
2 PAX3 p.Pro50Leu VAR_003793 rs104893650
3 PAX3 p.Arg56Leu VAR_003794 rs267606931
4 PAX3 p.Ile59Phe VAR_003795
5 PAX3 p.Ile59Asn VAR_003796
6 PAX3 p.Val60Met VAR_003797
7 PAX3 p.Met62Val VAR_003798
8 PAX3 p.Gly81Ala VAR_003800 rs587776586
9 PAX3 p.Lys85Glu VAR_003802
10 PAX3 p.Gly99Asp VAR_003803 rs118946342
11 PAX3 p.Phe238Ser VAR_003804
12 PAX3 p.Val265Phe VAR_003805
13 PAX3 p.Arg271Gly VAR_003806
14 PAX3 p.Arg270Cys VAR_013619 rs122859019
15 PAX3 p.Ser73Leu VAR_013640 rs155359392
16 PAX3 p.Gln391His VAR_013641
17 PAX3 p.Gly48Arg VAR_017533 rs141954855
18 PAX3 p.Val78Met VAR_017534
19 PAX3 p.Trp266Cys VAR_017536
20 PAX3 p.Arg271Cys VAR_017537 rs138085878
21 PAX3 p.Arg271His VAR_017538 rs774528745
22 PAX3 p.His80Asp VAR_079619 rs387906947
23 PAX3 p.Leu234Pro VAR_079621

Expression for Waardenburg Syndrome, Type 1

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 1.

Pathways for Waardenburg Syndrome, Type 1

Pathways related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.93 SOX10 SNAI2 PAX3 MITF
2 10.74 SOX10 PAX3 MITF

GO Terms for Waardenburg Syndrome, Type 1

Biological processes related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.83 WFS1 SOX10 SNAI2 MITF EDNRB
2 peripheral nervous system development GO:0007422 9.46 SOX10 EDNRB
3 sensory perception of sound GO:0007605 9.46 WFS1 SNAI2 PAX3 GJB2
4 neural crest cell migration GO:0001755 9.43 SOX10 EDNRB EDN3
5 vasoconstriction GO:0042310 9.4 EDNRB EDN3
6 enteric nervous system development GO:0048484 9.37 SOX10 EDNRB
7 vein smooth muscle contraction GO:0014826 9.32 EDNRB EDN3
8 pigmentation GO:0043473 9.26 TYR SNAI2 MITF EDNRB
9 melanocyte differentiation GO:0030318 8.92 SOX10 MITF EDNRB EDN3

Sources for Waardenburg Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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